A school-aged boy born of a third-degree consanguineous marriage presented with hoarseness of voice and multiple skin-colored papules on the upper eyelids of both eyes present since early childhood. There was no history of neurological complaints or similar history among his family members. Cutaneous examination revealed firm papules set closely together in a beaded fashion on the upper eyelids and lid margins moniliform blepharosis of both eyes Figure. His background skin was waxy, and there were skin-colored papules coalescing to form indurated plaques on the forehead along with few atrophic scars on the back, elbows, and hands. Oral examination revealed a short, woody, thickened tongue with indentations and a short frenulum. Histopathological examination showed deposition of periodic acid—Schiff—positive eosinophilic hyaline material along the wall of dermal blood vessels as well as in the dermis.
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Lipoid proteinosis LP is a rare disease that affects the skin and the brain. Three distinctive features characterize the disease: a hoarse voice, unusual growths on the skin and mucus membranes, and damage to the temporal lobes or hippocampus of the brain. The symptoms of LP may begin as early as infancy with hoarseness or a weak cry, due to growths on the vocal cords.
Skin lesions appear sometime in the next 3 years, leaving acne- or pox-like scars on the face, hands, and mucous membranes. The most characteristic symptom of LP is waxy, yellow, bead-like bumps along the upper and lower edges of the eyelids. Brain damage develops over time and is associated with the development of cognitive abilities and epileptic seizures.
Damage to the amygdala, a part of the brain that regulates emotions and perceptions, leads to difficulties in discriminating facial expressions and in making realistic judgments about the trustworthiness of other people.
LP is a hereditary disease that equally affects males and females. Nearly a quarter of all reported cases have been in the Afrikaner population of South Africa, but the disease is increasingly being reported from other parts of the world including India.
The gene responsible for LP has recently been identified. It performs an unknown function in the skin related to the production of collagen. There is no cure for LP. Some doctors have had success treating the skin eruptions with oral steroid drugs and oral dimethyl sulphoxide DMSO. Carbon dioxide laser surgery of thickened vocal cords and eyelid bumps has proved helpful in some studies. Dermabrasion may improve the appearance of the skin lesions.
Seizures, if present, may be treated with anticonvulsants. Lipoid proteinosis has a stable or slowly progressive course. Children with LP may have behavioral or learning difficulties, along with seizures. Obstruction in the throat may require a tracheostomy. Mortality rates in infants and adults are slightly increased because of problems with throat obstructions and upper respiratory tract infections.
The National Institute of Neurological Disorders and Stroke NINDS , and other institutes of the National Institutes of Health NIH , conduct research related to neurological diseases such as lipoid proteinosis in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country.
Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders, such as lipoid proteinosis. This valuable tool offers detailed descriptions, facts on treatment and prognosis, and patient organization contact information for over identified neurological disorders. Log in.
Lipoid Proteinosis Lipoid proteinosis LP is a rare disease that affects the skin and the brain. Treatment There is no cure for LP. Prognosis Lipoid proteinosis has a stable or slowly progressive course. View research on this topic. View studies being conducted about this condition. Like Subscribe Follow Follow Subscribe. About BrainFacts.
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Acitretin Treatment for Lipoid Proteinosis
Lipoid proteinosis is a condition that results from the formation of numerous small clumps deposits of proteins and other molecules in various tissues throughout the body. These tiny clumps appear in the skin, upper respiratory tract , the moist tissues that line body openings such as the eyelids and the inside of the mouth mucous membranes , and other areas. The first symptom of this condition is usually a hoarse voice, which is due to deposits in the vocal cords. In infancy the hoarseness is expressed as a weak cry. The voice abnormalities persist throughout life and can ultimately cause difficulty speaking or complete loss of speech.
DermNet provides Google Translate, a free machine translation service. Note that this may not provide an exact translation in all languages. Lipoid proteinosis is a rare genetic skin disease in which an amorphous hyaline material is deposited in the skin, mucosa , and internal organs. It is also called hyalinosis cutis et mucosae, and Urbach-Wiethe disease. Lipoid proteinosis is inherited as an autosomal recessive disorder. This means that both parents of an affected individual carry an abnormal gene. The parents are often related to each other by birth, and there may be a family history of the disease.